Autosomal dominant exudative vitreoretinopathy

Br J Ophthalmol. 1980 Feb;64(2):112-120. doi: 10.1136/bjo.64.2.112.

Abstract

Twelve affected members from 3 families with autosomal dominant exudative vitreouretinopathy were examined, and the following conclusions were drawn: (1) There is great variability in the phenotypic expression of the abnormal gene, such that many patients have very mild disease which can be detected with certainty only by fluorescein angiography. (2) Gene penetrance is close to 100%. (3) Progress of fundus changes and visual threat is rare after 20 years of age.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Eye Diseases / diagnosis
  • Eye Diseases / genetics
  • Female
  • Fluorescein Angiography
  • Genes, Dominant
  • Humans
  • Male
  • Middle Aged
  • Pedigree
  • Retinal Diseases / diagnosis
  • Retinal Diseases / genetics*
  • Retinal Vessels
  • Vitreous Body*